Newborn screening – the effects on parents

Many parents who discover unexpectedly after newborn screening that their baby is a carrier panic at first that there is something seriously wrong with the baby’s health. They urgently need information and counselling to explain that being a carrier is not the same as having the condition, and their baby will be healthy. (See sections on ‘Newborn screening without carrier screening in pregnancy’, ‘Communicating results’ and ‘Explaining genetics and risk’).

After this immediate fear has been dealt with, the next most important thing will be for the parents themselves to be screened. In most cases the results will show that one parent is a carrier. Again, the parent’s own health is not affected, but if the couple have other children together each baby will have a 1 in 2 risk of also being a carrier. Occasionally a couple will learn that they are both carriers. In this case they will need counselling about future pregnancies, because each child will have a 1 in 4 risk of having the condition. Some people find it quite stressful waiting for these results, while others are not too anxious.

It was worrying waiting for their results and wondering if they’d be able to have more children…

Gender Male

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Father: [laughs] No, to be honest. Were very laid back about the whole situation. I mean, it was a concern when we first were told that obviously if we had any more children, they had a one in ten* risk of becoming fairly sick and ill. Obviously that concerned us. And the time from waiting for the results to come back to see if we both were carriers or one of us was a carrier, that was quite, you know, but ‘

Mm. So you didn’t get into all the discussion about whether a baby who’s got the condition would need blood transfusions and ‘?

Father: We were told that, and obviously if that had been the situation, wed have took the decision whether we were going to have any more children or not. But waiting for the results and whatever, it was – you know. [Baby noises.]

Was it easy to sort of put that to the back of your mind, or did you already start thinking, you know, ‘What if? Would we go ahead with the?’

Father: No, the first twenty-four hours were like that. After the first twenty four hours, wed spoke to the midwife and wed been, wed spoke to the lady from [city]. And they both put us, put our minds at ease, really. They said that at the end of the day, until we get the results, theres not a lot we can do. Well have to see, just wait and see what happens, so that’s what we did.

And did you both have blood tests at the same time?

Father: Yeah.

Was that okay or was it ‘ what was it like having the blood test?

Father: I’m diabetic anyway, so I have, I test myself, and needles I’m used to that anyway. So [wife] wasn’t over–

Mother: Yeah.

Father: -over the moon, were you, with the blood test, but it’s something you have to have done, so.

Did you not find it very nice having the blood test?

Father: You didn’t.

Mother: No.

Father: You don’t like needles, do you?

Mother: No, I don’t like, I hate them.

Father: I think anyone who’s not used to needles it isn’t a very nice – but it’s part and parcel of it, and you’ve got to have it done, haven’t you? If it’s going to benefit your baby.

OK. And then how long did it take for the results to come back?

Father: They were quite good to be honest, within, within a month, it was all done and dusted, I’d say. And no problems, my wife was the carrier. I wasn’t a carrier. So were all right. The only thing weve got to be concerned about is as he gets older, if he meets somebody it’s obviously – I think they come back to us when hes fifteen, sixteen, anyway, and say, you know, coach him, talk to him and explain to him what he needs to do as and when he has a partner. So weve been quite lucky really, compared to other people, I suppose. It hasn’t affected us. We can have more children without the risk.

* Footnote the risk of having a b

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Waiting for her carrier screening results over Christmas was not good timing, but she wasn’t…

Age at interview 32

Gender Female

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Yeah, it was bad timing. I mean, it was a week before Christmas when it dropped on the door and it was case of, ‘I don’t want to hear that, the week before Christmas. ‘ I’d have rather have waited until the week after Christmas, because Christmas is a stressful time anyway for anybody, and to then to have that on your head, waiting and worrying. I mean, like I say, because I knew it was only trait I could sort of push it to the back of my mind. But it was still there all over Christmas thinking, ‘Is he going to be all right? Is it him?’ Then it was a case of, ‘Well, is it me? Is it their dad?’ And it was like, well – so it was, even though I pushed it back, it was still niggling, niggling, niggling. So like I say, it was a bad time to do it. It was a bad time to do it just before Christmas.

How long did you have to wait for your results to come through?

A week, it was only a week.

OK.

Yeah, very fast.

And you got a phone call about that, is that right?

Yeah, she rang me and then sent me the letter, just to confirm in writing.

Were you worried in that week, or not really?

No, because I thought well, if it’s me theres nothing I can do about it. It’s too late, I’m thirty-two years old [laughs] and I can’t change it. I’ve never been – like I say, I’ve never been ill with it, so it’s not something that I’ve had to suffer with. If I’d have suffered with it, wed have known a long time ago that I had it, wouldn’t we? So I don’t know, it was just mad.

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Parents may have other questions, such as where it has come from in their family. Most people contacted family members to see if anyone else knew they were a carrier or to suggest they might also be screened. (See ‘Telling people – implications for families’).

In some relationships, the discovery that the baby is a carrier can raise questions over who is the father of the baby. One couple had talked to each other about their fears while they were waiting for their carrier screening results. In the end they found she was a carrier.

They are glad they discovered the baby was a carrier, but the mother worried her partner might…

Gender Male

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FatherNow that we know that littlun’s got, well, is classed as a carrier or shes got a trait in her, then I’m glad that we know now because —

MotherOf her future.

Father- in future it’s something to sit down and just go through it and warn, just in case theres complications when she has children herself. Just in case theres, you know, theres a health risk there to future grandchildren. I’m glad. You know, I’m happy that we knew now. It was a shock, and it was quite stressful to know at the beginning, because with your children you go through the worst, don’t you, thinking, you know, anything. Children get a cold and you worry.

MotherTo be honest, the most stressful thing about that was the in-between. It was the sheer panic in my eyes of looking at my husband going, ‘she is yours. She is yours. There is, you know, theres – because of, I knew sickle cell being mainly in the black community. And I don’t know, he could have thought that Id been dishonest [laugh]. I mean you —

FatherWe did speak about this.

MotherYeah. You do look, you do look at the baby and you know that she is both of ours. But no, there could have been, if he wasnt as understanding, if he wasnt as good a man as what he is, then I dread to think. That’s the only thing. That’s the only thing that went through my head to begin with was, I know you. I know you trust me. I trust you. I havent got to panic about this. But it’s human nature.

MotherAnd I knew that Id got a good marriage and a good husband. But what did keep going through my mind was, What if, what if? I could have been black and blue by now and out that door with a newborn baby, nowhere to go. You sort of – I know your mind spirals, but it could easily happen.

FatherYou read it every day, don’t you?

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Parents will also have questions about the longer term implications for their child and when to inform the child that he or she is a carrier. Parents all felt it was important that their child should know about how the condition is inherited before they found a partner and had their own children when they grew up. (See also ‘Telling people – implications for relationships and marriage’). Although everyone understood that their child would remain healthy, there were some queries about whether anyone needed to know the child was a carrier if they were having other health problems or treatment. Although most people who are carriers are generally in good health, there are some possible health effects they need to be aware of. There is a risk to sickle cell carriers of “sickling” under situations of very severe oxygen deprivation. “Sickling” is when the red blood cells become sickle or crescent shaped and start to block the blood vessels. If deep sea diving or mountain climbing, the individual should make sure that they are well oxygenated but they do not have to avoid these activities. The situation that people are most likely to encounter oxygen deprivation is during anaesthesia, so it is helpful for doctors to know if someone is a carrier if an operation is planned. This does not apply to carriers of other unusual haemoglobins..

She wasn’t sure if anyone needed to know they were carriers if she or the baby were ever ill.

Gender Male

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MotherWeve – at the time, I suppose everybody that we were, that wed seen and spoke to about it knew about it anyway. But it’s never, it hasnt come up since. It’s, my one question was that, Have I, do I need to tell people about this? Do – if I’m ever ill or poorly – do I need to tell anyone if shes ever ill or poorly? And it’s No because it makes it, it’s not that sort of – because you’re only a carrier, you’re just carrying a few of the oddly shaped blood cells round that together can cause the disease if mixed with someone else that’s a carrier, that’s it. As black and white as that.

That’s what it is, and I think that’s how we think of it. And it’s never ever brought up, it’s just never mentioned. Because shes had colds and chest infections since and theyre more important than being a sickle cell carrier. If we don’t need to notify people, we don’t need to tell anybody, and it’s not going to cause any illness or make any illness worse, then, no, it’s just something that will just sort of sit in the background, up until either we decided to extend the family or were waiting for grandchildren [laugh]. And I think that’s the only times that it will come up.

Footnote generally a person’s health is not affected by being a sickle cell carrier. There is a risk to carriers of "sickling" under situations of very severe oxygen deprivation. The situation that people are most likely to encounter is oxygen deprivation during anaesthesia. It is therefore useful to have a card to show to health professionals stating that the person is a carrier (for example if emergency surgery is required).

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For parents who discover from newborn screening that their baby has a sickle cell disorder or beta thalassaemia major, there can be considerable stress and shock. Parents will of course worry about their baby’s future, but they may also find it affects their relationship with their partner, as one mother described.

They found it hard to talk to each other when the baby was diagnosed. They each felt guilty and…

Age at interview 40

Gender Female

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English translation:

Yes. Life changes straight away, even between the two partners, because you feel guilty. You have the impression that it’s because of you that this child is ill. And that’s very hard. And that’s hard because to start off with you don’t talk about it. That was certainly our case. We each stayed in our corner and thought about it, ‘What have I done? Should I have kept him? I didn’t know. Is it my fault?’ And he was exactly the same, must have been saying the same things to himself. And straight away that brings tensions between the couple. But you don’t express that because you’re afraid of hurting the other person. And we, in our case at the start we really couldn’t find a means of communication. So it was each one for themselves. We suffered in silence.

And at the same time we loved – there was this child who was there that we loved a lot. But personally we were suffering, because – especially when he started having his first crisis, which he had at 9 months, which is early. So all of a sudden then we were really confronted by the illness, and we were more focused on the child. You forget yourself because you want to give everything you can to the child. So we forgot about ourselves. And then it was a lack of communication and that created lots of tensions. That’s on the family side, between the mother and father.

At the level of other close family, it was more pity, and we didn’t need that. ‘Oh, it’s hard. Oh, the poor things. The poor little child. You hear that once, twice and afterwards, well, okay, you try not to talk about it to people around you. So for a second time you close in on yourself.

French original:

Oui. La vie, elle change déjà entre les deux partenaires, parce qu’on se sent coupable. On a l’impression que c’est à cause de nous que cet enfant est malade, et ça c’est dur. Et ça c’est dur parce qu’au départ on n’en parle pas. Nous, ça a été notre cas, chacun reste dans son coin et on cogite. Qu’est-ce-que jai fait ? Est-ce-que j’aurais du le garder ? Et on ne savait pas, et c’est ma faute.’ L’autre aussi pareil, devait se dire pareil. Et du coup ça amène des tensions dans un couple, mais on ne s’exprime pas parce qu’on a peur de blesser l’autre. Et nous, dans notre cas au départ on n’a vraiment pas trouvé un ton de communication. Donc c’était chacun pour soi, on souffrait dans le silence. Et en même temps, on aimait, il y avait cet enfant qui était là qu’on aimait beaucoup mais personnellement on souffrait, parce que surtout quand il a commencé à avoir sa première crise, qu’il a eu a neuf mois quand-même, ce qui fait tôt, alors du coup là on était vraiment confronté à la maladie, et on était plus focalisé sur l’enfant. On s’oublie, parce qu’on veut donner le maximum à l’enfant. Nous-même on s’oublie, et après c’était un manque de communication, et ça fait beaucoup de tensions Рça c’est du côté familial, entre le père et la maman.

Au niveau de la famille proche, c’est plus de la pitié et on n’a pas besoin de ça. Ah c’est dur, ah, les pauvres, le pauvre petit.’ On entend ça une fois, deux fois, et après bon ben on essaie de ne pas en parler autour de soi, donc encore une deuxième fois on encaisse pour soi.

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Again, counselling, support and information are vital in helping people to adjust and understand what the future holds for their baby.